Autosomal recessive hereditary disorder

Cardiovascular system hereditary disorder

Central nervous system complication

Congenital immunodeficiency disease

Congenital neurological disorder

Developmental hereditary disorder

Hereditary cancer-predisposing syndrome

Hereditary disorder of immune system

Hereditary disorder of nervous system

Immunodeficiency associated with chromosomal abnormality

Multiple malformation syndrome with unusual brain and/or neuromuscular findings

Spinocerebellar disease

Telangiectasia disorder